Identification and characterisation of human dysferlin transcript variants: Implications for dysferlin mutational screening and isoforms

Human Genetics

Volumn 125, Issue 4, 2009, Pages 413-420

  Pramono, Zacharias Aloysius Dwi ^a   Tan, Chin Lai ^b   Seah, Irene Ai Lian ^b   See, Joseph Shean Long ^b   Kam, Siok Yuen ^c   Lai, Poh San ^d   Yee, Woon Chee ^a  

^a SINGAPORE GENERAL HOSPITAL   (Singapore)

^b NATIONAL NEUROSCIENCE INSTITUTE   (Singapore)

^c DIVISION OF MEDICAL ONCOLOGY   (Singapore)

^d NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

Author keywords

[No Author keywords available]

Indexed keywords

DYSFERLIN; GENOMIC DNA; ISOPROTEIN; MESSENGER RNA;

ALTERNATIVE RNA SPLICING; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; GENE FREQUENCY; GENE IDENTIFICATION; GENETIC ANALYSIS; GENETIC VARIABILITY; HUMAN; HUMAN CELL; LIMB GIRDLE MUSCULAR DYSTROPHY; MIYOSHI MYOPATHY; MOLECULAR CLONING; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SKELETAL MUSCLE;

ALTERNATIVE SPLICING; BASE SEQUENCE; DISTAL MYOPATHIES; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; EXONS; GENETIC VARIATION; HUMANS; INTRONS; MEMBRANE PROTEINS; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; PROTEIN ISOFORMS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER;

EID: 67349161031     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-009-0632-y     Document Type: Article

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